المراجعة الذهبية الشاملة للامتحان (Ultimate Exam Guide)

• Must be fully assessed by a joint obstetric/cardiac clinic and cardiologist before pregnancy. Evaluation must include maternal echocardiography.
• Any potential surgical correction must be undertaken before a pregnancy. Dental problems must be resolved.
• Erythema nodosum: Occurs in both normal pregnancy and sarcoidosis (causes diagnostic confusion). Note: Pregnancy does not influence the natural history of sarcoidosis.
• Symptoms of Cardiac Failure vs. Normal Pregnancy: Look for breathlessness (especially at night), change in heart rate/rhythm, and reduced exercise tolerance. Routine exams should check JVP, ankle/sacral edema, and basal crepitations.

Toronto Risk Markers for Maternal Cardiac Events (Heart attack, Heart failure, Cardiac standstill):

• 1. Prior episode of heart failure, arrhythmia, or stroke.
• 2. NYHA > Class 2 or cyanosis.
• 3. Left heart obstruction.
• 4. Reduced Left Ventricular Ejection Fraction (EF < 40%).
• Probability of Cardiac Event (MCQ!):
  • 0 predictors: 5% risk
  • 1 predictor: 37% risk
  • >1 predictor: 75% risk

High-Risk Cardiac Conditions:

• Systemic ventricular dysfunction (EF < 30%, NYHA III–IV).
• Pulmonary hypertension.
• Cyanotic congenital heart disease.
• Aortic pathology (Dilated aortic root > 4 cm, Marfan syndrome).
• Ischaemic Heart Disease (IHD). Left heart obstructive lesions (aortic, mitral stenosis). Prosthetic heart valves (metal). Previous peripartum cardiomyopathy.

• Fetal Risks: Recurrence of congenital heart disease, Maternal cyanosis leading to fetal hypoxia, Iatrogenic prematurity, Fetal Growth Restriction (FGR), and adverse effects of maternal drugs (teratogenesis/fetal loss).
• Management of Labour and Delivery:
  • The primary aim is to await spontaneous labour to minimize intervention.
  • Epidural anaesthesia is often recommended to reduce pain-related stress and cardiac demand. However, beware of the risk of maternal hypotension.
  • Keep the second stage short. Avoid fluid overload.

• Ischaemic Heart Disease (IHD):
  • Risk of MI is 1 in 10,000, peaking in the third trimester and parous women >35 yrs. Pathology is frequently coronary artery dissection, NOT atherosclerotic.
  • PTCA (Percutaneous Transluminal Coronary Angioplasty) is acceptable but avoid 8–15 weeks (fetus most susceptible to radiation).
  • Thrombolytic therapy has risks of fetal and maternal haemorrhage.
• Marfan Syndrome:
  • Autosomal dominant. Risks: mitral valve prolapse, aortic regurgitation/root dilatation/rupture/dissection.
  • Pregnancy increases risk of aortic rupture. Maternal mortality is up to 50% if marked aortic root dilatation exists.
  • Serial Echocardiography is the principal investigation throughout pregnancy.

• NVP (Nausea & Vomiting of Pregnancy): Affects 70–80% of pregnant women. It is mild, self-limited, and not associated with adverse pregnancy outcomes. Not solely confined to the morning.
• Hyperemesis Gravidarum (HG): A severe, intractable form affecting 0.3–2.0% of pregnancies. Recurrence rates vary from 15.2% to 81%.
• Diagnostic Triad for HG:
  • Protracted NVP with > 5% prepregnancy weight loss.
  • Dehydration.
  • Electrolyte imbalance.
• Risk Factors: Increased placental mass (Advanced molar gestation, Multiple pregnancy), female fetus, younger women, small BMI.
• Aetiology: Likely multifactorial, associated with high levels of serum hCG, oestrogen, and thyroxine.
• Causes to Exclude: UTI, Hepatitis, DKA, Peptic ulcer, Appendicitis, Cholecystitis, Pancreatitis, Twisted ovarian tumor, Red degeneration of fibroid, and chronic Helicobacter pylori infection.

HG creates specific, highly testable metabolic disturbances!

• Urine Dipstick: Quantify ketonuria (1+ ketones or more).
• U&E (Electrolytes): NVP and HG are associated with Hyponatraemia, Hypokalaemia, and a Hypochloraemic Metabolic Alkalosis. (If severe, metabolic acidaemia may develop).
• Full Blood Count (FBC): Expect Raised haematocrit secondary to dehydration.
• Thyroid Function Tests (TFTs): Abnormal in two-thirds of patients! Due to structural similarity between TSH and hCG -> causes biochemical thyrotoxicosis (raised free T4, suppressed TSH). Patients are clinically euthyroid and lack antibodies. This resolves as HG improves. Anti-thyroid drugs are inappropriate.
• Liver Function Tests (LFTs): Abnormal in up to 40%. Most likely abnormality is raised transaminases. Bilirubin and amylase may be mildly raised without jaundice.
• Ultrasound: To confirm viability and exclude multiple pregnancy or trophoblastic disease (molar).

• Indications for Admission: Continued NVP + inability to keep down oral antiemetics, ketonuria, >5% weight loss, confirmed comorbidity (e.g., UTI needing IV Abx).
• Fluid Replacement: Oral feeding withheld for 24h after vomiting ceases. Give Normal Saline + Potassium Chloride. Dextrose infusions are contraindicated initially as they can precipitate Wernicke’s encephalopathy unless sodium is normal and Thiamine is administered first.
• Antiemetics (MCQ Targets):
  • 1st Line: Antihistamines & Phenothiazines (Cyclizine, Prochlorperazine, Promethazine, Chlorpromazine).
  • 2nd Line: Metoclopramide, Domperidone, Ondansetron. (Metoclopramide/Phenothiazines can cause drug-induced extrapyramidal symptoms and oculogyric crises).
  • 3rd Line: Corticosteroids (Hydrocortisone/Prednisolone) - reserved for severe cases where standard therapies failed.
  • Not Recommended: Diazepam and Pyridoxine. (Though NICE 2019 recommends Doxylamine/Pyridoxine Xonvea for failed conservative management).
• Alternative Therapies: Ginger may be used. Acupressure may improve NVP. Hypnotic therapies should not be recommended.
• Other Meds: Give Thiamine supplementation. Give Thromboprophylaxis (LMWH). Consider H2 antagonists/PPIs for reflux. Avoid iron-containing preparations if they exacerbate symptoms.

• Maternal: Liver and renal failure, electrolyte disturbance, malnutrition.
  • Central pontine myelinosis (due to rapid reversal of hyponatraemia).
  • Wernicke’s encephalopathy (due to Thiamine/B1 deficiency).
  • Mallory-Weiss esophageal tear.
  • Thromboembolism.
• Fetal: Fetal Growth Restriction (IUGR/FGR). Fetal death may ensue in cases of maternal Wernicke’s encephalopathy.

• Definition: Difficulty delivering the shoulders, due to a problem at the pelvic inlet.
• Cause: Anterior shoulder of the baby is wedged above the pubic symphysis. The posterior shoulder is usually in the pelvis.
• Diagnosis: Failure of the head to restitute, Turtle's sign.
• First Rules: Once recognized (preferably before traction), call for help. Do NOT pull or apply fundal pressure. Check if the posterior shoulder is in the sacral hollow.

Maneuvers to get the anterior shoulder into the pelvis (Sequential Order):

• 1. McRoberts position + Suprapubic pressure (with moderate traction).
• 2. If fails: perform an Episiotomy to allow access posteriorly.
• 3. If fails: Woods screw manoeuvre. Feel posterior shoulder and rotate it into oblique (anterior shoulder may then enter pelvis). Do NOT twist the neck.
• 4. If fails: Try to deliver posterior arm. Insert hand, apply pressure on axilla then cubital fossa, sweeping arm across baby's chest.
• 5. Can roll to "all fours" position.

Last-Resort (If posterior shoulder has NOT entered pelvis - extremely rare):

• Zavanelli manoeuvre: Go to theatre, General Anaesthesia, Uterine relaxation (Tocolysis), Replace head, perform Caesarean section.
• Symphysiotomy (last resort).
• Postpartum: Actively manage 3rd stage to prevent PPH. Inspect for and repair trauma.

• Physiology of Pregnancy:
  • Insulin resistance increases as pregnancy advances (mainly mid-2nd trimester).
  • Causes of resistance: Placental hormones (HPL, glucagon, progesterone, CRH), Adipokines (TNF-a, adiponectin, leptin), and rising maternal cortisol.
  • Result: Postprandial hyperglycemia, decreased maternal glucose utilization -> more glucose crosses placenta to fetus.
  • The renal tubular threshold for glucose falls -> Glycosuria is common.
  • Fasting glucose levels fall by 10–20%, postprandial levels rise.

Congenital abnormalities, stillbirths, and perinatal deaths remain 2-fold to 4-fold higher in pre-gestational diabetes.

• Fetal Complications:
  • Miscarriage, Congenital abnormalities (neural tube defects, microcephaly, cardiac, sacral agenesis, renal).
  • Polyhydramnios (25%) and Macrosomia (25–40%).
  • Preterm labour, FGR, Unexplained Intrauterine Death (IUD).
• Neonatal Complications: Polycythaemia, Jaundice, Hypoglycaemia, Hypocalcaemia, Hypomagnesaemia, Cardiomegaly, RDS, Birth trauma (shoulder dystocia, Erb's palsy).
• Maternal Complications:
  • UTI, Candidiasis, Pre-eclampsia, Obstructed labour.
  • Hypoglycaemia: Affects 70% of pre-existing DM. Altered hormonal response/reduced awareness. Must supply Glucagon. Treat even if asymptomatic!
  • Diabetic Ketoacidosis (DKA): Fetal mortality > 10%. Can occur at normal blood glucose levels (Euglycaemic DKA). Risks: infection, vomiting, beta-mimetics, steroids. Treatment is same as non-pregnant (ICU, IV insulin, fluids, K+ replacement).
  • Diabetic Retinopathy (15%): Risk factors for worsening: HTN, long DM duration, and a rapid fall in HbA1c. Check before pregnancy, early, 16w, and 28w. Not a contraindication for rapid optimization or vaginal birth!
  • Diabetic Nephropathy: Risk for pre-eclampsia. Requires intensive control + low-dose aspirin from 12 weeks.

• Pre-conception: Advise against pregnancy if HbA1c > 10%. Target < 6.5% (48 mmol/mol). Give 5 mg Folic acid daily. Stop ACE inhibitors and Statins.
• First Trimester: Dating scan (<10w). Insulin requirements drop by ~10% from week 7 to 15 (Do NOT stop insulin despite vomiting!).
• Second Trimester: Detailed anatomy scan + Fetal echocardiography at 18-20w. Insulin resistance increases; dose may increase up to 3-fold by term. Check Uterine Artery Doppler at 20w for pre-eclampsia risk.
• Medications:
  • Type 1: Continue basal-bolus or pump.
  • Type 2: Metformin and Glibenclamide can be continued. Stop newer drugs (thiazolidinediones, DPP-IV inhibitors, SGLT2 inhibitors).
  • GDM targets: Fasting < 5.3 mmol/L, 1-hour postprandial < 7.8 mmol/L.
• Timing & Mode of Delivery:
  • Diabetics should not go beyond 38-39 weeks (4-fold risk of unexplained stillbirth).
  • Type 1: High risk of failed induction (often nulliparous), CS rate 50%. Type 2: Better induction success.
  • GDM: If controlled on diet/metformin and uncomplicated, can go to 40 weeks.
  • If giving steroids for lung maturity, insulin requirements double for 72h; use a sliding scale (variable-rate intravenous insulin infusion).
• Postpartum Care:
  • Insulin requirements drop dramatically. Reduce insulin to 25–30% of pregnancy dose immediately! (Or 50% of delivery dose, reduce by 20-30% more if breastfeeding).
  • Breastfeeding aids glycemic control. Metformin, Glibenclamide, and Insulin are safe for breastfeeding.
  • GDM: Stop meds, check fasting glucose/HbA1c at 6 weeks.
  • Contraception: Avoid estrogen if high embolism risk; Progesterone-only or IUD are safe.

• Physiology: Kidney size increases by 1cm in length. Marked dilatation of calyces, renal pelvis, and ureter from 1st trimester. Vesicoureteric reflux occurs -> urinary stasis -> infection. Residual urine is NOT normally present after micturition despite bladder muscle relaxation.
• Clearance: Uric acid clearance increases -> plasma uric acid drops initially, then returns to non-pregnant values. Renal blood flow increases 30-50% -> GFR increases -> plasma urea/creatinine decrease. (Note: A creatinine within the "normal" non-pregnant range may indicate renal impairment in pregnancy!).
• Urinary Tract Infections (UTIs):
  • Cystitis: frequency, dysuria. Gross haematuria = Hemorrhagic cystitis.
  • Pyelonephritis: Flu-like symptoms, fever, loin pain. MCQ: Consider pyelonephritis in women presenting with hyperemesis or threatened preterm labour. (20% have abnormal renal tract -> do Renal USS after 1 episode or >=2 UTIs).
  • Diagnosis: MSU culture > 100,000 organisms/mL.
• Treatment Durations & Contraindications:
  • Asymptomatic bacteriuria: 3 days. Cystitis: 5-7 days. Pyelonephritis: 10-14 days.
  • Avoid Tetracyclines (permanent teeth staining, skeletal defects) and Ciprofloxacin (skeletal problems).

• Maternal Risks: Accelerated/permanent deterioration of renal function, HTN, superimposed pre-eclampsia, VTE (if nephrotic proteinuria).
• Fetal Risks: Miscarriage, FGR, preterm delivery, fetal death. (Risk correlates with degree of renal dysfunction).
• Pre-pregnancy & Antenatal Management:
  • Stop ACE Inhibitors immediately.
  • Give Aspirin (75–150mg at night) to all CKD women to prevent pre-eclampsia.
  • Differentiating pre-eclampsia from CKD flare: Thrombocytopenia, FGR, and abnormal LFTs suggest pre-eclampsia. Use Placental Growth Factor (PlGF) testing.
  • Erythropoietin may be required for significant impairment.
• Renal Transplants:
  • Immunosuppressive therapy MUST be continued (Prednisolone, Azathioprine, Tacrolimus).
  • Mycophenolate mofetil is teratogenic and MUST be replaced before conception.

• Characteristics: Oliguria, increased urea/creatinine, hyperkalaemia, metabolic acidosis. Rare, usually postpartum.
• Phases:
  • 1. Oliguria.
  • 2. Polyuria (dilute urine produced, but waste still not excreted -> renal function still deteriorates).
  • 3. Recovery.
• Causes:
  • Pre-renal (Hypovolaemia): Haemorrhage, Hyperemesis, Septic shock, Acute Fatty Liver of Pregnancy (AFLP).
  • Intrinsic (Direct damage): Pre-eclampsia, HELLP, Amniotic fluid embolus, Sepsis, Drug reaction.
  • Post-renal: Obstruction, Ureteric damage, Pelvic/Broad ligament haematoma.
• Management: Avoid fluid overload (pulmonary oedema risk). Only a minority require dialysis (for persistent hyperkalaemia, acidosis, pulmonary oedema, uraemia).

• Physiology: Maternal thyroid gland enlarges due to demand. Increased renal clearance of iodine causes a relative iodine deficiency. Fetus requires maternal T4 for brain development before 12 weeks.
• Hyperthyroidism (Graves' Disease):
  • Graves' disease often improves in pregnancy, but relapses postpartum.
  • Untreated hyperthyroidism is dangerous. Treatment: PTU (Propylthiouracil) and Carbimazole are used; note that both cross the placenta.

Untreated maternal hypothyroidism before 12 weeks drops fetal IQ.

• Hypothyroidism: Most cases are already diagnosed (autoimmune).
  • Untreated risks: Anovulatory infertility, miscarriage, low birth weight, pre-eclampsia, and gestational diabetes.
  • Most women should continue their maintenance dose of Levothyroxine; only increase if TSH shows under-replacement. Check TSH before conception and every trimester.
  • Cold intolerance is the most discriminatory feature from normal pregnancy.
  • Levothyroxine is safe during breast-feeding.
• Thyroid Nodules: Affects 5%. Suspicious features for malignancy (MCQ targets):
  • Past history of radiation to neck/chest.
  • Fixed lump.
  • Lymphadenopathy.
  • Rapid growth of painless nodule.
  • Voice change.
  • Neurological involvement (Horner’s syndrome).
• Management of Nodules: Radioiodine is contraindicated in pregnancy. Malignant lesions can be surgically treated in the 2nd and 3rd trimesters.

Normal pregnancy physiology mimics decompensated chronic liver disease/cirrhosis (peaks in 2nd trimester).

• Blood volume increases by 50% but liver blood flow remains constant. The liver is typically not palpable.
• Telangiectasia, Spider angiomas, and Palmar erythema are NORMAL in pregnancy (due to oestrogen).
• Gallbladder: Increased bile lithogenicity and decreased contractility -> increased incidence of gallstones (19% in multiparous).
• Normal Labs:
  • Alkaline Phosphatase (ALP) increases (placental secretion). Albumin levels drop (dilutional).
  • ALT, AST, Bilirubin, and GGT remain NORMAL. Any abnormality requires investigation! Liver histology is normal.

• Causes Specific to Pregnancy (10% of cases): Hyperemesis gravidarum, Pre-eclampsia/HELLP, AFLP, Obstetric cholestasis.
• Viral Hepatitis (Most common cause worldwide):
  • Acute infection in 1st trimester -> higher rate of spontaneous miscarriage.
  • Hepatitis E: High risk of Fulminant Hepatic Failure. More common in primigravida & 3rd trimester. Mortality is 20% in underdeveloped countries. Associated with preterm delivery, FGR, stillbirth.
  • Herpes Simplex Hepatitis: Rare but very high perinatal mortality. Aciclovir dramatically improves outcomes.
  • Hepatitis A: Fetal transmission is extremely rare.
  • Hepatitis B: 1.5% are carriers. Not more common in pregnancy.
• Cirrhosis: Very rare (associated with anovulation). Patients advised to avoid pregnancy. 25% bleed from oesophageal varices -> MUST screen via endoscopy from the 2nd trimester.

Rare (1:10,000) but fatal (Maternal mortality 18%, Fetal 23%).

• Presents in 3rd trimester. Associated with twin pregnancy, male fetus, and mild pre-eclampsia.
• Diagnosis based on Swansea criteria (6 or more required): Vomiting, Abdominal pain, Polydipsia/polyuria (transient DI), Encephalopathy, Bilirubin >14 µmol/L, Hypoglycaemia <4 mmol/L, Urea >340, Leucocytosis >11x10^9, Ascites/bright liver on US, AST/ALT >42 IU/L, Ammonia >47, Creatinine >150, Coagulopathy (PT >14s, APPT >34s), Microvesicular steatosis on biopsy.
• Management: ICU/MDT. Treat hypoglycaemia. Correct coagulopathy (IV Vit K, FFP). Regional anaesthesia is contraindicated if thrombocytopenia (<80) or deranged clotting. Delivery follows stabilization. Most women recover rapidly postpartum; rarely recurs.

• Peptic Ulcer Disease: Less common and usually improves during pregnancy. Endoscopy is safe. Antacids, Ranitidine, and Omeprazole are safe.
• Inflammatory Bowel Disease (IBD - UC & Crohn's):
  • Reduces fertility rates. Pregnancy doesn't alter the course, but new-onset IBD or uncontrolled active disease at conception increases risks.
  • Methotrexate is CONTRAINDICATED.
• Gallstones/Cholecystitis: Prevalence 19% (multiparous), 8% (nulliparous). Acute cholecystitis is rare (0.1%). Conservative management (fluids, bowel rest, Abx) preferred in 1st and 3rd trimesters. Surgery (cholecystectomy) preferred in 2nd trimester if relapse (40-90%).
• Pancreatitis: Uncommon. 3rd trimester. Most common cause in pregnancy is gallstones followed by alcohol.

• Classification: BMI >= 30 kg/m2.
• Pre-pregnancy Counseling: Weight loss between pregnancies severely reduces the risk of stillbirth, hypertensive complications, macrosomia, and increases the chances of successful VBAC (Vaginal Birth After Caesarean).
• Supplements: Give 5 mg Folic Acid daily (start 1 month before conception until end of 1st trimester). Obese women are at high risk of Vitamin D deficiency (supplement 400 IU).
• Bariatric Surgery: A minimum waiting period of 12–18 months after bariatric surgery is recommended before attempting pregnancy to allow weight stabilization and correct nutritional deficiencies. Requires consultant-led care and dietician referral.

• Anti-obesity drugs are NOT recommended in pregnancy.
• Screen for mental health problems.
• 150 mg aspirin daily from 12 weeks for pre-eclampsia prevention if >1 moderate risk factor (BMI >35, first pregnancy, age >40, family history, multiple pregnancy).
• Screen for GDM at 24-28 weeks.
• Intrapartum:
  • In Caesarean Section, suture subcutaneous tissue > 2 cm to prevent wound infection/separation.
  • Active management of 3rd stage to prevent PPH.

Summary of Risks (MCQ Targets):

• Maternal Risks: Maternal death/severe morbidity, Cardiac disease, 1st trimester/recurrent miscarriage, Pre-eclampsia, GDM, VTE, Psychological problems, Post-caesarean wound infection, PPH, and Low breastfeeding rates.
• Fetal/Neonatal Risks: Miscarriage, Congenital abnormalities, Stillbirth and neonatal death, Prematurity, Fetal macrosomia, Childhood/adult obesity, Metabolic syndrome.

• Pathogen: Toxoplasma gondii (protozoan). Spread by cat faeces / undercooked meat. Incubation <2 days. ~20% of UK women immune. Incidence 1:500.
• Fetal Risks: Spontaneous miscarriage is common in 1st trimester.
• The 4 C's of Congenital Toxoplasmosis (Tetrad):
  • 1. Cerebral calcifications (Intracranial).
  • 2. Cephaly (Microcephaly).
  • 3. Cephalus (Hydrocephalus).
  • 4. Chorioretinitis.
  • Plus: Convulsions / Intellectual disability.
• Diagnosis (Maternal): Paired serology (acute then 10-14 days later). Look for isolated very high IgM (can persist 1yr), concurrent high IgM and IgG, or 4-fold increase in IgG.

• CMV: The most common congenital infection.
• Congenital Defects: FGR, Microcephaly, Hepatosplenomegaly, Thrombocytopenia (Blueberry muffin rash), Jaundice, Chorioretinitis.
• Late Sequelae: Sensorineural hearing loss, psychomotor retardation (accounts for up to 10% of intellectual disability in children <6yrs old).
• High-Yield Note: Even if the fetus appears NORMAL on ultrasound, there remains a 10–20% risk of hearing loss and neuro-disability. Termination may be considered if severe abnormalities are detected.

• Clinical Features: Mild febrile illness, Maculopapular rash, Arthralgia, Lymphadenopathy.
• Major Malformations (highest risk <13wks): Sensorineural deafness, Cardiac (VSD and patent ductus arteriosus), Eye lesions (cataracts), Microcephaly.
• Late Sequelae: Diabetes mellitus, Thyroid disorders, Progressive panencephalitis.

• Fetal Effects: FGR, Non-immune fetal hydrops, cerebral calcification, GI/bone lesions, stillbirth.
• Newborn Effects: Anaemia, jaundice, hepatosplenomegaly, rhinitis, rash on hands and feet, neurodisability.
• Screening: Routine antenatal screening. Treponemal tests (EIAs, TPHA, FTA-ABS) have high sensitivity/specificity and have replaced the VDRL.
• Treatment: Penicillin G. Watch out for Jarisch-Herxheimer reaction.

• Pathogen: Herpes virus. Transmitted by droplet/direct contact. >90% of adults immune.
• Maternal Risk: Non-immune pregnant women may develop serious pneumonia, hepatitis, or encephalitis. Mortality rate is five times higher in the pregnant population.
• Fetal Risk: Fetal Varicella Syndrome (FVS) causes skin scarring, eye defects (microphthalmia, cataracts), limb hypoplasia, and microcephaly/cortical atrophy.

Hydrops Fetalis: Abnormal accumulation of serous fluid in TWO OR MORE fetal compartments (pleural/pericardial effusions, ascites, skin oedema, polyhydramnios, placental oedema).

• Pathophysiology: Imbalance of interstitial fluid production and inadequate lymphatic return (Congestive heart failure, obstructed lymphatics, decreased plasma osmotic pressure).
• A. Immune Hydrops (10%): Blood group incompatibility causing fetal anemia. (Anti-D, Anti-Kell, Anti-c). Note: Anti-D is much more common than Anti-c.
• B. Non-Immune Hydrops (90%):
  • Infection: Parvovirus B19, CMV, Rubella, Toxoplasmosis, Syphilis.
  • Thoracic: CCAM (Congenital Cystic Adenomatoid Malformation - 1 in 25k-35k), Chylothorax, Diaphragmatic hernia.
  • Chromosomal: Trisomy 21/13, Turner syndrome.
  • Hematological: Alpha-thalassaemia, Red cell enzyme def.
  • Cardiac: Congenital complete heart block, SVT.
  • Others: Twin-to-twin transfusion (TTTS), Cystic hygroma, Myotonic dystrophy.

• Diagnosis:
  • Indirect Coombs test (for alloimmunization).
  • Targeted US: Detailed anatomy, Fetal echocardiography, MCA Doppler velocimetry (assesses fetal anemia).
  • Amniocentesis: Karyotype, TORCH testing.
  • Kleihauer-Betke test: Fetal RBCs resist acid elution and stain darkly. Calculates size of feto-maternal hemorrhage.
• Management of Non-Immune:
  • Pleural effusions/CCAM: In utero percutaneous drainage and shunt into amniotic fluid.
  • TTTS: Laser photocoagulation of placental anastomoses.
  • Cardiac Tachyarrhythmias: Maternal Digoxin and Flecainide.

Anti-D is prophylactic. First pregnancy usually unaffected because primary response is IgM (doesn't cross placenta). Secondary response is IgG (crosses placenta -> hemolysis -> fetal anemia -> hydrops).

• Sensitizing Events: TOP, ERPC, ectopic, hydatidiform mole, bleeding <12w, ECV, blunt trauma, amniocentesis/CVS, IUD, delivery of Rh+ baby.
• Anti-D Prophylaxis: Give within 72 hours (up to 10 days max).
  • < 20 weeks: Give 250 IU. Kleihauer test performed.
  • > 20 weeks: Give minimum 500 IU. Kleihauer test required. Every 1ml of hemorrhage needs 125 IU of Anti-D.
• Management of Sensitized Woman:
  • If father is Rh negative -> no risk. If father is Rh positive -> 50% heterozygous. Check fetal genotype via cffDNA (non-invasive, taken at 16-20 weeks).
  • MCA Doppler has replaced invasive amniocentesis for monitoring anemia reliably.
  • If critical: < >34 weeks -> Cordocentesis -> if Hct < 30% -> Intrauterine transfusion to raise Hct 40-45%. >34 weeks -> Delivery.
• Intrauterine Transfusion: Into the umbilical vein at cord insertion (ideally through placenta, not amniotic sac). Blood MUST be: O negative, packed cells, white-cell depleted, irradiated, CMV negative.
• At Delivery: Neonatologist must be present for exchange transfusion. Cord blood taken for FBC, blood group, and Direct Coombs test.

• Pathogen: HIV is an RNA retrovirus.
• Transmission Modes: Sexual contact, blood/products, shared needles, or vertical transmission (mother-to-child).
• Vertical Transmission Timing: Mainly occurs in the late third trimester or during labour, delivery, or breastfeeding.
• Prevalence: Decreasing globally due to PMTCT, but >5% of pregnant women in sub-Saharan Africa are living with HIV.

Prevalence of serious congenital malformations per 1000 live births (MCQ Target):

• Congenital heart disease: 6–8
• Developmental dysplasia of the hip (DDH): 1.5
• Talipes: 1.5
• Down’s syndrome: 1.5
• Cleft lip and/or palate: 1.2
• Urogenital (hypospadias, undescended testes): 1.2
• Spina bifida/anencephaly: 0.5

• Apgar Score: Tool for assessing transition to extrauterine life. Checked at 1 and 5 minutes (and 10). Apgar score is 7-10 (Reassuring). <7 indicates need for resuscitation. Does NOT definitively predict long-term neurological issues.
• Examination Steps: Palpate anterior fontanelle for tension (leave until later if crying); palpate sutures (craniosynostosis = premature fusion). Check for cephalhaematoma. Examine ears, nose, mouth (cleft palate), clavicles, femoral pulses, spine.

• Group B Streptococcus (GBS): Intrapartum antibiotic prophylaxis is given for risk conditions. Routine screening is not done.
• Phenylketonuria (PKU): Incidence 1 in 13000. Screened using dried blood spots on filter paper (Guthrie test). Milk feeds must be established first. Blood taken by heel prick on the 5th–9th day of life.
• Hypothyroidism: Congenital hypothyroidism incidence is 1 in 3000. Treatment must start by 28 days for a better IQ.
• Cystic Fibrosis: Affects 1 in 2500. Uses IRT. Most common mutation is DF508 (>90%).
• Hypoglycaemia:
  • Healthy breastfed babies have lower glucose than formula-fed but use ketone bodies as alternative brain fuel.
  • Infants at risk: Fetal Growth Restriction (FGR), Infants of diabetic mothers, Preterm infants, Hypoxia in labour, 'Large for dates' (undiagnosed GDM).

• Late VKDB: Occurs virtually exclusively in breastfed babies (unless liver disease). Associated with a high (50%) chance of Intracranial Haemorrhage -> permanent neurological handicap. Prevented by a single Intramuscular (IM) dose of Vitamin K at birth (Oral dose is ineffective for late-onset).
• Neonatal Jaundice:
  • Usually benign, but healthy term newborns are NOT immune to Kernicterus (yellow staining of the basal ganglia by bilirubin).
  • Survivors are severely handicapped by athetoid cerebral palsy, sensorineural deafness, paralysis of up-gaze, and dental enamel dysplasia.
  • Prevention: Detect rising levels, encourage regular feeding (dehydration worsens jaundice), and use phototherapy or exchange transfusion if above threshold.